A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982631



Internal ID12628606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187177808..188043459hg38UCSC Ensembl
Innerchr4:188098962..188964613hg19UCSC Ensembl
Innerchr4:188335956..189201607hg18UCSC Ensembl
Innerchr4:188474111..189339762hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38865652
hg19865652
hg18865652
hg17865652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752041
Supporting Variants
SamplesBEC_573
Known GenesLOC339975, ZFP42
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982631
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer